ClinVar Miner

Submissions for variant NM_005708.5(GPC6):c.1466-6C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002707035 SCV003548440 uncertain significance Inborn genetic diseases 2020-12-10 criteria provided, single submitter clinical testing The c.1466-6C>T intronic alteration consists of a C to T substitution 6 nucleotides before exon 9 (coding exon 9) in the GPC6 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005059215 SCV005715031 likely benign not provided 2024-09-27 criteria provided, single submitter clinical testing

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