ClinVar Miner

Submissions for variant NM_000067.3(CA2):c.754A>G (p.Asn252Asp)

gnomAD frequency: 0.02817  dbSNP: rs2228063
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000328868 SCV000475135 likely benign Osteopetrosis with renal tubular acidosis 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000961873 SCV001108929 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Mendelics RCV000328868 SCV001137649 benign Osteopetrosis with renal tubular acidosis 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000961873 SCV001883170 benign not provided 2020-04-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31690045)
Fulgent Genetics, Fulgent Genetics RCV000328868 SCV002798112 benign Osteopetrosis with renal tubular acidosis 2022-03-30 criteria provided, single submitter clinical testing
OMIM RCV000000961 SCV000021111 pathogenic CARBONIC ANHYDRASE II VARIANT 1972-06-25 no assertion criteria provided literature only

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