ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) (rs690016543)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000149508 SCV000196159 pathogenic Charcot-Marie-Tooth disease, type 4B3 2014-05-06 no assertion criteria provided literature only
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000162103 SCV000196388 likely pathogenic Charcot-Marie-Tooth disease 2014-12-01 no assertion criteria provided research
Inherited Neuropathy Consortium RCV000162103 SCV000929577 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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