ClinVar Miner

Submissions for variant NM_006415.4(SPTLC1):c.571G>A (p.Ala191Thr)

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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 RCV005048746 SCV005677766 uncertain significance Neuropathy, hereditary sensory and autonomic, type 1A; Amyotrophic lateral sclerosis 27, juvenile 2024-03-13 criteria provided, single submitter clinical testing

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