ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser) (rs61758388)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550422 SCV000655049 benign Desbuquois dysplasia 1 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000002643 SCV000022801 risk factor Pseudoxanthoma elasticum, modifier of severity of 2006-09-01 no assertion criteria provided literature only

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