ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.1145A>T (p.Asp382Val)

gnomAD frequency: 0.00002  dbSNP: rs757714144
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592660 SCV000708499 uncertain significance not provided 2017-05-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521129 SCV001730399 benign Primary ciliary dyskinesia 2021-12-02 criteria provided, single submitter clinical testing

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