ClinVar Miner

Submissions for variant NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) (rs35948326)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251633 SCV000309408 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315888 SCV000349435 likely benign Spherocytosis type 3 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000251633 SCV000540452 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: frequency
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283032 SCV000605276 benign none provided 2020-08-31 criteria provided, single submitter clinical testing
Mendelics RCV000986444 SCV001135450 benign Hereditary pyropoikilocytosis 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000013699 SCV000033946 pathogenic Spherocytosis, type 3, autosomal recessive 1993-09-01 no assertion criteria provided literature only

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