ClinVar Miner

Submissions for variant NM_001017420.3(ESCO2):c.1593A>C (p.Ala531=)

gnomAD frequency: 0.00001  dbSNP: rs1451610987
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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 RCV001434620 SCV001637430 likely benign not provided 2023-04-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826247 SCV002083255 likely benign Roberts syndrome 2021-05-27 no assertion criteria provided clinical testing

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