ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.22G>T (p.Gly8Trp)

dbSNP: rs575193991
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065942 SCV001230933 likely benign not provided 2023-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429718 SCV002731748 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-12-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Baylor Genetics RCV003467830 SCV004191226 uncertain significance Schwannomatosis 2 2023-10-15 criteria provided, single submitter clinical testing

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