ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.779C>G (p.Thr260Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005050875 SCV005684464 uncertain significance Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy; Neuronopathy, distal hereditary motor, type 5C 2024-05-22 criteria provided, single submitter clinical testing

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