ClinVar Miner

Submissions for variant NM_015065.3(EXPH5):c.3268C>G (p.Leu1090Val)

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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 RCV002624453 SCV003516706 benign not provided 2022-05-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002624453 SCV004811010 uncertain significance not provided 2024-03-01 criteria provided, single submitter clinical testing EXPH5: PM2, BP4

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