ClinVar Miner

Submissions for variant NM_022166.4(XYLT1):c.2631C>T (p.Pro877=)

dbSNP: rs34511974
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001517254 SCV001725726 benign Desbuquois dysplasia 1 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001712927 SCV001941251 benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243270 SCV002514037 benign Desbuquois dysplasia 2 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712927 SCV005290327 benign not provided criteria provided, single submitter not provided

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