ClinVar Miner

Submissions for variant NM_001386140.1(MTTP):c.501+8C>T

gnomAD frequency: 0.00004  dbSNP: rs773537875
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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 RCV001441923 SCV001644863 likely benign not provided 2023-06-11 criteria provided, single submitter clinical testing
New York Genome Center RCV003227976 SCV003925377 uncertain significance Abetalipoproteinaemia 2022-04-06 criteria provided, single submitter clinical testing

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