ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.329-13G>C

gnomAD frequency: 0.00010  dbSNP: rs771408124
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002205464 SCV002365580 likely benign Acrocallosal syndrome 2022-12-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706300 SCV005213971 likely benign not provided criteria provided, single submitter not provided

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