ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.84-4G>A

gnomAD frequency: 0.00006  dbSNP: rs778578725
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000982380 SCV001130394 likely benign not provided 2023-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030067 SCV004878125 uncertain significance Nephrolithiasis/nephrocalcinosis 2023-11-21 criteria provided, single submitter clinical testing The c.84-4G>A intronic alteration consists of a G to A substitution 4 nucleotides before coding exon 2 in the GRHPR gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274436 SCV001458619 likely benign Primary hyperoxaluria, type II 2020-04-13 no assertion criteria provided clinical testing

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