ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.791-5C>T

gnomAD frequency: 0.00595  dbSNP: rs73671921
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518236 SCV000612384 benign not provided 2016-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081680 SCV001001616 benign Hereditary spastic paraplegia 48 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000518236 SCV001804777 likely benign not provided 2021-01-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848886 SCV002106212 likely benign Hereditary spastic paraplegia 2019-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001081680 SCV002811944 likely benign Hereditary spastic paraplegia 48 2021-09-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000518236 SCV005228381 likely benign not provided criteria provided, single submitter not provided

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