ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)

gnomAD frequency: 0.00031  dbSNP: rs138867099
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000408097 SCV000341226 uncertain significance not provided 2018-02-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086033 SCV000766740 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001086033 SCV001279639 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Baylor Genetics RCV001086033 SCV001524382 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-01-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000408097 SCV001785522 likely benign not provided 2021-04-20 criteria provided, single submitter clinical testing Reported previously in an individual undergoing next generation sequencing testing for myopathy, although further information was not provided on this individual (Di Fruscio et al., 2016); This variant is associated with the following publications: (PMID: 25898921)
Natera, Inc. RCV001086033 SCV001456714 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-01-07 no assertion criteria provided clinical testing

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