ClinVar Miner

Submissions for variant NM_000534.5(PMS1):c.1744G>A (p.Val582Ile)

gnomAD frequency: 0.00033  dbSNP: rs74512161
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724169 SCV000232976 uncertain significance not provided 2014-08-11 criteria provided, single submitter clinical testing
ITMI RCV000121829 SCV000086027 not provided not specified 2013-09-19 no assertion provided reference population

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