ClinVar Miner

Submissions for variant NM_152269.5(MTRFR):c.18_21del (p.Leu6fs)

dbSNP: rs2138792385
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CMT Laboratory, Bogazici University RCV001353165 SCV001548326 likely pathogenic Hereditary motor and sensory neuropathy with optic atrophy 2020-12-01 criteria provided, single submitter clinical testing

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