ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.487-20A>T

gnomAD frequency: 0.00007  dbSNP: rs115756273
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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 RCV002128840 SCV002459506 benign Charcot-Marie-Tooth disease type 2 2024-12-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505793 SCV002797886 likely benign Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy; Neuronopathy, distal hereditary motor, type 5C 2021-08-20 criteria provided, single submitter clinical testing

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