ClinVar Miner

Submissions for variant NM_001010.3(RPS6):c.695G>A (p.Arg232His)

gnomAD frequency: 0.00001  dbSNP: rs748611445
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Laboratory - MEYER, AOU Meyer RCV000855715 SCV000914225 uncertain significance Hemimegalencephaly 2019-05-14 no assertion criteria provided research

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