ClinVar Miner

Submissions for variant NM_005012.4(ROR1):c.1356G>C (p.Glu452Asp)

gnomAD frequency: 0.00006  dbSNP: rs777805288
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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 RCV002139015 SCV002467941 likely benign not provided 2024-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505823 SCV002810154 likely benign Hearing loss, autosomal recessive 108 2021-07-28 criteria provided, single submitter clinical testing

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