ClinVar Miner

Submissions for variant NM_005012.4(ROR1):c.1553C>T (p.Thr518Met)

gnomAD frequency: 0.26086  dbSNP: rs7527017
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001656341 SCV001862530 benign not provided 2020-01-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796647 SCV002033667 benign Hearing loss, autosomal recessive 108 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001656341 SCV002407695 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001656341 SCV005287328 benign not provided criteria provided, single submitter not provided

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