ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.234+5G>A

gnomAD frequency: 0.00118  dbSNP: rs187264712
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515099 SCV000611077 uncertain significance not provided 2017-03-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087235 SCV000652303 benign Thrombophilia due to protein S deficiency, autosomal recessive 2024-08-06 criteria provided, single submitter clinical testing

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