ClinVar Miner

Submissions for variant NM_053054.4(CATSPER1):c.539dup (p.His182fs)

dbSNP: rs193929390
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004650 SCV000024824 pathogenic Spermatogenic failure 7 2009-04-01 no assertion criteria provided literature only
GeneReviews RCV000004650 SCV000041566 not provided Spermatogenic failure 7 no assertion provided literature only

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