ClinVar Miner

Submissions for variant NM_005122.5(NR1I3):c.930G>A (p.Ala310=)

gnomAD frequency: 0.00367  dbSNP: rs36017137
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153596 SCV000203136 benign not specified 2014-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000971462 SCV001119113 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000971462 SCV004125117 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing NR1I3: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000971462 SCV005285752 benign not provided criteria provided, single submitter not provided

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