ClinVar Miner

Submissions for variant NM_015459.5(ATL3):c.418C>T (p.Leu140=)

gnomAD frequency: 0.00159  dbSNP: rs34261014
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537776 SCV000654862 benign Neuropathy, hereditary sensory, type 1F 2024-01-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310603 SCV001500468 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing ATL3: BP4, BP7
GeneDx RCV001310603 SCV001906534 benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000537776 SCV002539635 benign Neuropathy, hereditary sensory, type 1F 2021-12-05 criteria provided, single submitter clinical testing

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