ClinVar Miner

Submissions for variant NM_031433.4(MFRP):c.665C>G (p.Pro222Arg)

dbSNP: rs1950545280
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001724764 SCV001950050 uncertain significance Isolated microphthalmia 5 2021-08-10 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_031433.4:c.855T>A.

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