ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.1252A>T (p.Asn418Tyr)

gnomAD frequency: 0.00001  dbSNP: rs753603433
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001353255 SCV001548398 likely pathogenic Thrombophilia due to protein S deficiency, autosomal dominant 2021-02-23 criteria provided, single submitter clinical testing

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