ClinVar Miner

Submissions for variant NM_004092.4(ECHS1):c.519G>A (p.Ala173=)

gnomAD frequency: 0.00034  dbSNP: rs140262395
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000907475 SCV000713964 uncertain significance not provided 2023-02-24 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV000907475 SCV001052183 likely benign not provided 2024-12-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000907475 SCV001746969 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987619 SCV004804137 likely benign not specified 2024-01-04 criteria provided, single submitter clinical testing

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