ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)

dbSNP: rs104894901
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 RCV000012180 SCV000032414 pathogenic Child syndrome 2000-02-14 no assertion criteria provided literature only
GeneReviews RCV000012180 SCV000040835 not provided Child syndrome no assertion provided clinical testing

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