ClinVar Miner

Submissions for variant NM_005340.7(HINT1):c.111+6_111+7insC

gnomAD frequency: 0.00034  dbSNP: rs770851222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538978 SCV000658506 likely benign Autosomal recessive axonal neuropathy with neuromyotonia 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000612050 SCV000725602 likely benign not specified 2017-12-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000538978 SCV003799482 benign Autosomal recessive axonal neuropathy with neuromyotonia 2022-03-01 criteria provided, single submitter clinical testing

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