ClinVar Miner

Submissions for variant NM_001174089.2(SLC4A11):c.2451G>A (p.Thr817=) (rs58757394)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000312772 SCV000433543 likely benign Corneal dystrophy 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.
Athena Diagnostics Inc RCV000992993 SCV001145652 benign not provided 2018-09-14 criteria provided, single submitter clinical testing
Invitae RCV000992993 SCV001725871 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273524 SCV001456661 benign Corneal dystrophy-perceptive deafness syndrome 2020-09-16 no assertion criteria provided clinical testing

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