ClinVar Miner

Submissions for variant NM_018993.4(RIN2):c.589T>A (p.Ser197Thr)

gnomAD frequency: 0.15165  dbSNP: rs3803981
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247710 SCV000307083 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000247710 SCV000525667 benign not specified 2016-10-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002057995 SCV002407699 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002057995 SCV005314402 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000247710 SCV001808149 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000247710 SCV001952036 benign not specified no assertion criteria provided clinical testing

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