ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1437C>T (p.Ser479=)

gnomAD frequency: 0.00005  dbSNP: rs147914333
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596913 SCV000701858 uncertain significance not provided 2016-11-29 criteria provided, single submitter clinical testing
Invitae RCV001085399 SCV001014368 benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001085399 SCV001279776 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV001085399 SCV001460835 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-04-17 no assertion criteria provided clinical testing

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