ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1002C>T (p.His334=)

dbSNP: rs374833797
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001119213 SCV001277569 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-04-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001119213 SCV001647933 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001119213 SCV001465222 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-04-17 no assertion criteria provided clinical testing

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