ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.507G>C (p.Pro169=)

dbSNP: rs145393127
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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 RCV002085213 SCV002376807 likely benign Charcot-Marie-Tooth disease type 2 2021-11-08 criteria provided, single submitter clinical testing

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