ClinVar Miner

Submissions for variant NM_001127713.1(ATL1):c.1065C>A (p.Asn355Lys) (rs1555365597)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626932 SCV000747635 pathogenic Penetrating foot ulcers; Distal sensory impairment; Osteomyelitis leading to amputation due to slow healing fractures; Distal lower limb muscle weakness 2017-01-01 criteria provided, single submitter clinical testing
OMIM RCV000023542 SCV000044833 pathogenic Hereditary sensory neuropathy type 1D 2011-01-07 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789726 SCV000929103 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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