ClinVar Miner

Submissions for variant NM_000376.3(VDR):c.1104_1105inv (p.Cys369Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001316499 SCV001507124 uncertain significance not provided 2021-07-14 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV003483814 SCV004228554 not provided Vitamin D-dependent rickets type II with alopecia no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 07-23-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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