ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2244= (p.Pro748=)

gnomAD frequency: 0.99999  dbSNP: rs1553769059
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083177 SCV000284789 benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711035 SCV000841355 benign not provided 2017-08-24 criteria provided, single submitter clinical testing

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