ClinVar Miner

Submissions for variant NM_004736.4(XPR1):c.921G>A (p.Pro307=)

gnomAD frequency: 0.00114  dbSNP: rs151270778
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000891048 SCV001034835 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000891048 SCV001906849 benign not provided 2021-05-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000891048 SCV001808956 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000891048 SCV001965629 likely benign not provided no assertion criteria provided clinical testing

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