ClinVar Miner

Submissions for variant NM_018699.4(PRDM5):c.744-38C>T

gnomAD frequency: 0.38181  dbSNP: rs2136998
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001724922 SCV001950586 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789561 SCV002031826 benign Brittle cornea syndrome 2 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001724922 SCV005302648 benign not provided criteria provided, single submitter not provided

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