ClinVar Miner

Submissions for variant NM_001127255.2(NLRP7):c.2738A>G (p.Asn913Ser)

gnomAD frequency: 0.00048  dbSNP: rs104895503
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000001655 SCV002810524 likely pathogenic Hydatidiform mole, recurrent, 1 2021-10-12 criteria provided, single submitter clinical testing
OMIM RCV000001655 SCV000021811 pathogenic Hydatidiform mole, recurrent, 1 2009-09-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000001655 SCV000116141 not provided Hydatidiform mole, recurrent, 1 no assertion provided not provided

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