ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.846G>A (p.Ala282=)

gnomAD frequency: 0.00004  dbSNP: rs375554369
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000864157 SCV001004920 likely benign Charcot-Marie-Tooth disease type 2 2024-01-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847050 SCV002106261 uncertain significance Hereditary spastic paraplegia 2017-02-15 criteria provided, single submitter clinical testing

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