ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) (rs104894901)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000012180 SCV000040835 pathologic Child syndrome 2011-02-01 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000012180 SCV000032414 pathogenic Child syndrome 2000-02-14 no assertion criteria provided literature only

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