ClinVar Miner

Submissions for variant NM_030578.4(B9D2):c.88+6C>T

gnomAD frequency: 0.00205  dbSNP: rs112498529
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246573 SCV000314628 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000860890 SCV001001066 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV001582877 SCV001820930 likely benign not provided 2020-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494767 SCV002797899 likely benign Meckel syndrome, type 10 2021-08-24 criteria provided, single submitter clinical testing

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