ClinVar Miner

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

gnomAD frequency: 0.01927  dbSNP: rs61758388
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550422 SCV000655049 benign Desbuquois dysplasia 1 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001723535 SCV001950598 benign not provided 2020-09-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19014925, 16759312, 16571645)
Genome-Nilou Lab RCV002243615 SCV002514050 benign Desbuquois dysplasia 2 2021-12-05 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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