ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1398T>A (p.Leu466=)

gnomAD frequency: 0.00001  dbSNP: rs1167471564
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003066649 SCV003445701 likely benign not provided 2022-03-09 criteria provided, single submitter clinical testing

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