ClinVar Miner

Submissions for variant NM_001206979.2(NR1H4):c.795C>T (p.Asn265=)

gnomAD frequency: 0.00009  dbSNP: rs147030757
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594028 SCV000703712 uncertain significance not provided 2016-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000594028 SCV004251920 benign not provided 2023-07-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000594028 SCV005191941 uncertain significance not provided criteria provided, single submitter not provided

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