ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.3803G>A (p.Arg1268Gln) (rs2238472)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PXE International RCV000006948 SCV000589079 benign Pseudoxanthoma elasticum criteria provided, single submitter research
Mendelics RCV000006948 SCV001139964 benign Pseudoxanthoma elasticum 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000006948 SCV000027144 pathogenic Pseudoxanthoma elasticum 2000-05-23 no assertion criteria provided literature only
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132640 SCV000172591 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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