ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.2154G>A (p.Ala718=)

gnomAD frequency: 0.00002  dbSNP: rs371733417
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457063 SCV000561852 likely benign Perlman syndrome 2023-09-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437222 SCV004153466 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing DIS3L2: BP4, BP7

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