ClinVar Miner

Submissions for variant NM_015915.5(ATL1):c.976del (p.Val326fs)

dbSNP: rs1595619553
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023544 SCV000044835 pathogenic Neuropathy, hereditary sensory, type 1D 2011-01-07 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789725 SCV000929102 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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