ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.894T>C (p.Asn298=)

gnomAD frequency: 0.00009  dbSNP: rs756599272
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173546 SCV001336636 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001487450 SCV001691936 likely benign Charcot-Marie-Tooth disease type 4A 2024-01-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003117800 SCV003800316 likely benign not provided 2022-04-07 criteria provided, single submitter clinical testing

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