ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.2698G>A (p.Ala900Thr)

gnomAD frequency: 0.00017  dbSNP: rs202213533
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001488912 SCV001693441 likely benign not provided 2024-11-13 criteria provided, single submitter clinical testing
GeneDx RCV001488912 SCV002559743 uncertain significance not provided 2022-06-22 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Fulgent Genetics, Fulgent Genetics RCV005040290 SCV005682585 uncertain significance Brachydactyly type B1; Autosomal recessive Robinow syndrome 2024-04-20 criteria provided, single submitter clinical testing

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