ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.1020C>T (p.Tyr340=)

gnomAD frequency: 0.00004  dbSNP: rs374634410
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001421100 SCV001623616 likely benign Thrombophilia due to protein S deficiency, autosomal recessive 2022-02-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930903 SCV004737546 likely benign PROS1-related disorder 2023-12-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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