ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3283A>G (p.Lys1095Glu)

gnomAD frequency: 0.00001  dbSNP: rs761001181
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001993646 SCV002248497 likely benign not provided 2023-04-05 criteria provided, single submitter clinical testing

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