ClinVar Miner

Submissions for variant NM_004260.4(RECQL4):c.2700T>C (p.His900=)

dbSNP: rs1554897521
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 RCV000551628 SCV000631113 likely benign Baller-Gerold syndrome 2022-09-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255436 SCV002536102 likely benign Hereditary cancer-predisposing syndrome 2020-09-10 criteria provided, single submitter curation

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