ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.507G>T (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 RCV001417981 SCV001620196 likely benign Charcot-Marie-Tooth disease type 2 2018-08-29 criteria provided, single submitter clinical testing

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