ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.1235-6G>A

gnomAD frequency: 0.00003  dbSNP: rs762484263
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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 RCV001448290 SCV001651376 likely benign Charcot-Marie-Tooth disease type 2 2025-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495633 SCV002794694 likely benign Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy; Neuronopathy, distal hereditary motor, type 5C 2021-12-21 criteria provided, single submitter clinical testing

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