ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1251G>A (p.Thr417=)

dbSNP: rs151090625
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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) RCV000286857 SCV000335951 uncertain significance not provided 2015-10-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001121213 SCV001279774 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.
Invitae RCV001121213 SCV001544098 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001121213 SCV002085501 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-10-28 no assertion criteria provided clinical testing

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