ClinVar Miner

Submissions for variant NM_152558.5(IQCE):c.212G>A (p.Arg71Gln)

gnomAD frequency: 0.01521  dbSNP: rs61736920
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001730738 SCV001981488 benign Polydactyly, postaxial, type a7 2021-08-19 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000845052 SCV000986892 not provided not provided no assertion provided phenotyping only Variant interpretted as Likely benign and reported on 10/30/2014 by GTR ID 320384. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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