ClinVar Miner

Submissions for variant NM_004736.4(XPR1):c.1887C>A (p.Ile629=)

gnomAD frequency: 0.00006  dbSNP: rs761801981
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000921024 SCV001066416 likely benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495538 SCV002799089 likely benign Basal ganglia calcification, idiopathic, 6 2021-07-27 criteria provided, single submitter clinical testing

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