ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.885G>A (p.Pro295=)

gnomAD frequency: 0.00006  dbSNP: rs559783362
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516898 SCV000612497 likely benign not provided 2018-09-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001407254 SCV001609221 likely benign Charcot-Marie-Tooth disease type 2 2024-05-24 criteria provided, single submitter clinical testing

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