ClinVar Miner

Submissions for variant NM_001017361.3(KHDC3L):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00001  dbSNP: rs606231235
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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 Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000023916 SCV004808212 uncertain significance Hydatidiform mole, recurrent, 2 2024-03-29 criteria provided, single submitter clinical testing
OMIM RCV000023916 SCV000045207 pathogenic Hydatidiform mole, recurrent, 2 2011-09-09 no assertion criteria provided literature only

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