ClinVar Miner

Submissions for variant NM_001017420.3(ESCO2):c.765T>C (p.Phe255=)

dbSNP: rs780741900
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000918291 SCV001063595 likely benign not provided 2024-10-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832077 SCV002083247 likely benign Roberts syndrome 2020-12-31 no assertion criteria provided clinical testing

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