ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter)

dbSNP: rs104894903
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012182 SCV000032416 pathogenic Child syndrome 2000-02-14 no assertion criteria provided literature only
GeneReviews RCV000012182 SCV000086836 not provided Child syndrome no assertion provided clinical testing Identified as a mosaic mutated allele in a male with CHILD syndrome.

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