ClinVar Miner

Submissions for variant NM_000047.3(ARSL):c.410G>T (p.Gly137Val)

dbSNP: rs80338711
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 RCV000012281 SCV000032515 pathogenic X-linked chondrodysplasia punctata 1 1995-04-07 no assertion criteria provided literature only
GeneReviews RCV000012281 SCV000040401 not provided X-linked chondrodysplasia punctata 1 no assertion provided literature only

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